ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000012.11) (NC_000012.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
20711175 Ng et al. described ten patients with Kabuki syndrome and "de novo" LoF mutations in KMT2D gene.
21671394 Hannibal et al. described 25 patients with Kabuki syndrome and "de novo" LoF mutations which were located all over KMT2D gene. The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations.
21607748 Li et al. described eleven patients with Kabuki syndrome and "de novo" LoF mutations at KMT2D gene: Three nonsense mutations, two splice-site mutations, six small deletions or insertions.

Haploinsufficiency phenotype comments:

Associated with Kabuki syndrome. A large number of truncating mutations scattered throughout the gene have been described in the literature (see HGMD). Mutation spectrum includes nonsense, splicing, indels, and frameshift changes, and intragenic exonic deletions. Since 2010, several individuals with KMT2D de novo LoF mutations were described (first time: PMID 20711175). More recent publications related to Kabuki syndrome and KMT2D are PMIDs 23535010; 27302555; 28295206; 30107592.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

Focal duplications involving KMT2D have not been described.